KEGG   DISEASE: H01276Help
Entry
H01276                      Disease                                

Name
X-linked chronic idiopathic intestinal pseudo-obstruction;
CIIPX
Description
Chronic idiopathic intestinal pseudo-obstruction is a rare, often fatal syndrome in infancy, caused by a heterogeneous group of enteric neuromuscular diseases that result in a severe abnormality of gastrointestinal motility. It has been reported that flamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction.
Category
Gastrointestinal disease
BRITE hierarchy
Pathway
MAPK signaling pathway
Focal adhesion
Gene
FLNA [HSA:2316] [KO:K04437]
Other DBs
MeSH: 
OMIM: 
Reference
  Authors
Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A
  Title
Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.
  Journal
Am J Hum Genet 80:751-8 (2007)

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